Variant report

Variant	rs567978171
Chromosome Location	chr7:100170331-100170332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100167688..100170595-chr7:100808818..100810322,2	K562	blood:
2	chr7:100169248..100171474-chr7:100281930..100284276,2	MCF-7	breast:
3	chr7:100142903..100145091-chr7:100168075..100170895,2	MCF-7	breast:
4	chr7:100156035..100158297-chr7:100168691..100170406,2	MCF-7	breast:
5	chr7:100033704..100035599-chr7:100167839..100170550,2	K562	blood:
6	chr7:100027524..100029226-chr7:100168230..100171158,2	K562	blood:

Variant related genes	Relation type
ENSG00000146830	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000128564	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
9	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv888787	chr7:100161557-100179857	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
11	nsv888788	chr7:100161557-100186066	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	52 gene(s)	inside rSNPs	diseases
12	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
13	nsv888789	chr7:100166585-100178915	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
14	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases
15	esv3441398	chr7:100170241-100172789	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100154600-100173600	Weak transcription	HSMMtube	muscle
2	chr7:100160800-100172800	Weak transcription	Aorta	Aorta
3	chr7:100167000-100171800	Weak transcription	Small Intestine	intestine
4	chr7:100167600-100171200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:100167600-100173600	Weak transcription	HSMM	muscle
6	chr7:100168000-100170600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:100168000-100171600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:100168000-100172800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:100168000-100172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:100168000-100179800	Weak transcription	Right Atrium	heart
11	chr7:100168200-100170400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:100168200-100170400	Enhancers	NH-A	brain
13	chr7:100168200-100170600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:100168200-100170600	Weak transcription	Colonic Mucosa	Colon
15	chr7:100168200-100170800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:100168200-100170800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr7:100168200-100170800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
18	chr7:100168200-100171600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:100168200-100171600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:100168200-100172000	Weak transcription	Brain Anterior Caudate	brain
21	chr7:100168200-100172200	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:100168200-100172600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:100168200-100172600	Weak transcription	Ovary	ovary
24	chr7:100168200-100172800	Weak transcription	Brain Angular Gyrus	brain
25	chr7:100168200-100172800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:100168200-100177600	Weak transcription	HMEC	breast
27	chr7:100168400-100171000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:100168400-100171200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:100168600-100170800	Flanking Active TSS	HepG2	liver
30	chr7:100168600-100175200	Weak transcription	Osteobl	bone
31	chr7:100168600-100179600	Strong transcription	NHLF	lung
32	chr7:100168800-100170400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:100168800-100171000	Weak transcription	Adipose Nuclei	Adipose
34	chr7:100168800-100171600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:100168800-100173800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:100168800-100175400	Weak transcription	HUVEC	blood vessel
37	chr7:100168800-100175800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:100168800-100177400	Weak transcription	NHDF-Ad	bronchial
39	chr7:100169000-100170400	Weak transcription	Esophagus	oesophagus
40	chr7:100169000-100170600	Genic enhancers	Fetal Thymus	thymus
41	chr7:100169000-100171400	Weak transcription	Right Ventricle	heart
42	chr7:100169000-100171600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:100169000-100171800	Weak transcription	Left Ventricle	heart
44	chr7:100169200-100170400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:100169200-100170400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:100169200-100170600	Weak transcription	Dnd41	blood
47	chr7:100169200-100170800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:100169200-100170800	Weak transcription	Gastric	stomach
49	chr7:100169200-100171600	Strong transcription	Spleen	Spleen
50	chr7:100169200-100172400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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